title: Genome-wide association study of endometrial cancer in E2C2.
abstract: Endometrial cancer (EC), a neoplasm of the uterine epithelial lining, is the most common gynecological malignancy in developed countries and the fourth most common cancer among US women. Women with a family history of EC have an increased risk for the disease, suggesting that inherited genetic factors play a role. We conducted a two-stage genome-wide association study of Type I EC. Stage 1 included 5,472 women (2,695 cases and 2,777 controls) of European ancestry from seven studies. We selected independent single-nucleotide polymorphisms (SNPs) that displayed the most significant associations with EC in Stage 1 for replication among 17,948 women (4,382 cases and 13,566 controls) in a multiethnic population (African America, Asian, Latina, Hawaiian and European ancestry), from nine studies. Although no novel variants reached genome-wide significance, we replicated previously identified associations with genetic markers near the HNF1B locus. Our findings suggest that larger studies with specific tumor classification are necessary to identify novel genetic polymorphisms associated with EC susceptibility.
authors.affiliation: Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA, nhidv@channing.harvard.edu.
authors.forename: Immaculata
authors.initials: I
authors.lastname: De Vivo
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authors.lastname: Prescott
authors.forename: Veronica Wendy
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authors.lastname: Doherty
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authors.lastname: Friedenreich
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authors.lastname: Garcia-Closas
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authors.lastname: Gaudet
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authors.lastname: Hartge
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authors.lastname: Holliday
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authors.lastname: Hunter
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authors.forename: Jolanta
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authors.lastname: Magliocco
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authors.lastname: McEvoy
authors.forename: Tracy A
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authors.lastname: O'Mara
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authors.lastname: Orlow
authors.forename: Jodie N
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authors.lastname: Painter
authors.forename: Loreall
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authors.lastname: Pooler
authors.forename: Radhai
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authors.lastname: Rastogi
authors.forename: Timothy R
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authors.lastname: Rebbeck
authors.forename: Harvey
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authors.lastname: Risch
authors.forename: Carlotta
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authors.lastname: Sacerdote
authors.forename: Fredrick
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authors.lastname: Schumacher
authors.forename: Rodney J
authors.initials: RJ
authors.lastname: Scott
authors.forename: Xin
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authors.lastname: Sheng
authors.forename: Xiao-ou
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authors.lastname: Shu
authors.forename: Amanda B
authors.initials: AB
authors.lastname: Spurdle
authors.forename: Deborah
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authors.lastname: Thompson
authors.forename: David
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authors.lastname: Vanden Berg
authors.forename: Noel S
authors.initials: NS
authors.lastname: Weiss
authors.forename: Lucy
authors.initials: L
authors.lastname: Xia
authors.forename: Yong-Bing
authors.initials: YB
authors.lastname: Xiang
authors.forename: Hannah P
authors.initials: HP
authors.lastname: Yang
authors.forename: Herbert
authors.initials: H
authors.lastname: Yu
authors.forename: Wei
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authors.lastname: Zheng
authors.forename: Stephen
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authors.lastname: Chanock
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authors.lastname: Kraft
mesh_terms: D001741:Black or African American / Q000235:genetics; D000368:Aged; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D015331:Cohort Studies; D016889:Endometrial Neoplasms / Q000235:genetics*; D005260:Female; D056426:Genetic Loci; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D051539:Hepatocyte Nuclear Factor 1-beta / Q000235:genetics; D006801:Humans; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012307:Risk Factors; D014481:United States / Q000453:epidemiology; D044465:White People / Q000235:genetics
chemical_list: C496495:HNF1B protein, human; D051539:Hepatocyte Nuclear Factor 1-beta